Abstract
Background: NLRP3 (formerly known as CIAS1 or NALP3) encodes a key component of the inflammasome and is a strong candidate gene for Crohn's disease (CD) susceptibility. A recent study reported significant and internally replicated association between CD and six single nucleotide polymorphisms (SNPs) in a regulatory region 5.3 kb downstream of NLRP3. Independent replication is required to verify these findings. Methods: In all, 1298 CD cases and 1244 healthy controls were genotyped for the six SNPs using Taqman. Single locus, haplotype, and subphenotype analyses were conducted using logistic regression-based methods and PLINK, respectively. Results: No significant associations were found, either on single locus, subphenotype, or haplotype analysis. Conclusions: Given our high (>90%) power to replicate findings from the index study, our data suggest either a much smaller effect size for the association between NLRP3 and CD susceptibility than previously reported or the possibility of a false-positive result in the index study. Further studies in other populations are required to determine what role, if any, NLRP3 variants play in CD susceptibility. © 2010 Crohns & Colitis Foundation of America, Inc.
Original language | English |
---|---|
Pages (from-to) | 1387-1391 |
Number of pages | 4 |
Journal | Inflammatory Bowel Diseases |
Volume | 17 |
Issue number | 6 |
DOIs | |
Publication status | Published - Jun 2011 |
Keywords
- Crohn's disease
- genetics
- inflammasome
- NLRP3